Acylcarnitine Profile, Quantitative, Plasma

When to Consider This Test

• If your newborn screening results indicated a potential issue with fatty acid oxidation or organic acid metabolism, prompting a follow-up test.
• When you or your child are experiencing persistent or recurrent symptoms like unexplained vomiting, lethargy, muscle pain, or neurological issues that do not have a clear cause.
• If there is a known family history of inherited metabolic disorders, and your healthcare provider recommends screening.
• As part of ongoing management for an already diagnosed metabolic disorder to assess the effectiveness of dietary or therapeutic interventions.

Who Benefits from This Test

• Individuals with a family history of inherited metabolic disorders, particularly those affecting fatty acid metabolism or organic acid pathways.
• Newborns who have received an abnormal result on their initial newborn screening tests, indicating a need for further specialized investigation.
• Patients experiencing unexplained symptoms suggestive of a metabolic disorder, such as recurrent vomiting, low blood sugar (hypoglycemia), severe fatigue, muscle weakness, or developmental delays.
• Those currently undergoing treatment for a diagnosed fatty acid oxidation disorder or organic aciduria, to help monitor their condition and assess treatment effectiveness.

Commonly Used For Diagnosis Of

• Fatty Acid Oxidation Disorders (FAODs): Conditions such as MCADD (Medium-chain Acyl-CoA Dehydrogenase Deficiency), LCHADD (Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency), VLCADD (Very Long-chain Acyl-CoA Dehydrogenase Deficiency), and CPT-II Deficiency (Carnitine Palmitoyltransferase II Deficiency), which impair the body's ability to convert fat into energy.
• Organic Acidurias: A group of metabolic disorders including Propionic Acidemia, Methylmalonic Acidemia, Isovaleric Acidemia, and Glutaric Aciduria Type I, characterized by the accumulation of toxic organic acids.
• Carnitine Cycle Disorders: Including Primary Carnitine Deficiency, where the body cannot transport fatty acids into mitochondria for energy production.
• Newborn Screening Follow-Up: Essential for confirming or ruling out specific metabolic disorders identified through initial newborn screening programs.
• Unexplained Metabolic Crises: In individuals presenting with symptoms like recurrent hypoglycemia, severe lethargy, muscle weakness, or neurological symptoms suggestive of an underlying metabolic disturbance.

Important Cautionary Notes

It is crucial to remember that this test provides valuable information for diagnosing and managing inherited metabolic disorders. However, results should always be interpreted by a healthcare provider in conjunction with your clinical symptoms, medical history, and other diagnostic tests. Factors like carnitine deficiency or dietary supplements can influence results. This test is intended for informational purposes and does not replace professional medical advice. Always consult with a qualified healthcare professional for diagnosis and treatment.